Incidental Mutation 'IGL02563:Pabpn1l'
ID298732
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pabpn1l
Ensembl Gene ENSMUSG00000069867
Gene Namepoly(A)binding protein nuclear 1-like
SynonymsLOC382035, ePABP2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.137) question?
Stock #IGL02563
Quality Score
Status
Chromosome8
Chromosomal Location122619471-122622739 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 122620383 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Serine at position 228 (T228S)
Ref Sequence ENSEMBL: ENSMUSP00000090747 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015157] [ENSMUST00000093059] [ENSMUST00000127664] [ENSMUST00000127984] [ENSMUST00000212966]
Predicted Effect probably benign
Transcript: ENSMUST00000015157
SMART Domains Protein: ENSMUSP00000015157
Gene: ENSMUSG00000015013

DomainStartEndE-ValueType
Pfam:Sybindin 5 138 3.3e-12 PFAM
Pfam:Sedlin_N 7 137 7.3e-38 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000093059
AA Change: T228S

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000090747
Gene: ENSMUSG00000069867
AA Change: T228S

DomainStartEndE-ValueType
RRM 144 216 2.44e-18 SMART
low complexity region 252 266 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000127664
SMART Domains Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

DomainStartEndE-ValueType
Pfam:Glycos_transf_2 104 287 7.4e-31 PFAM
Pfam:Glyco_transf_7C 261 331 4.9e-8 PFAM
RICIN 406 531 9.28e-27 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000127984
SMART Domains Protein: ENSMUSP00000118997
Gene: ENSMUSG00000006362

DomainStartEndE-ValueType
low complexity region 47 62 N/A INTRINSIC
TAFH 148 238 5.46e-52 SMART
low complexity region 309 318 N/A INTRINSIC
Pfam:NHR2 356 422 2.3e-38 PFAM
PDB:2KYG|C 456 485 2e-10 PDB
Pfam:zf-MYND 533 569 6.9e-10 PFAM
low complexity region 590 613 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183603
Predicted Effect possibly damaging
Transcript: ENSMUST00000212966
AA Change: T243S

PolyPhen 2 Score 0.601 (Sensitivity: 0.87; Specificity: 0.91)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930402F06Rik A T 2: 35,380,398 V97E probably damaging Het
9530053A07Rik G A 7: 28,157,892 E2222K probably benign Het
Abhd16a C T 17: 35,101,245 T362M probably damaging Het
Adam23 T G 1: 63,567,977 probably benign Het
Apeh C A 9: 108,093,709 R87L possibly damaging Het
Arid3a T A 10: 79,950,883 M490K probably damaging Het
Atp6v1b1 T A 6: 83,755,451 V251D probably benign Het
Cog8 C T 8: 107,056,423 R78Q possibly damaging Het
Cyld T C 8: 88,735,894 I701T probably damaging Het
Dmgdh A G 13: 93,674,539 probably benign Het
Dnm1 T C 2: 32,315,919 probably null Het
Dopey2 T A 16: 93,777,405 V2D probably damaging Het
Dusp22 A T 13: 30,705,645 S70C possibly damaging Het
Dync2h1 T C 9: 7,035,700 Q3415R possibly damaging Het
Dysf T C 6: 84,186,516 probably benign Het
Fam114a1 G A 5: 65,006,148 probably null Het
Fam20a T A 11: 109,677,794 Q302L possibly damaging Het
Fancm T A 12: 65,092,462 L374H probably damaging Het
Fgf17 G A 14: 70,636,738 Q204* probably null Het
Gap43 T C 16: 42,292,132 T89A probably benign Het
Gm5069 A G 1: 180,327,899 probably benign Het
Gm9913 C T 2: 125,506,334 probably benign Het
Gpr174 T C X: 107,293,248 L222P probably benign Het
Grid2 A T 6: 64,345,873 Q619L possibly damaging Het
Hoxc13 A G 15: 102,921,798 D204G possibly damaging Het
Itgav T C 2: 83,771,236 V317A probably benign Het
Keg1 A T 19: 12,719,157 N288I probably damaging Het
Ksr1 C T 11: 79,044,858 V234I possibly damaging Het
Lrp1 T A 10: 127,551,686 D3365V probably damaging Het
Luc7l3 A T 11: 94,300,068 probably null Het
Mta2 T C 19: 8,948,051 I348T probably benign Het
Nphp4 A G 4: 152,556,220 I1015V probably benign Het
Nup214 C T 2: 31,977,860 S113F probably damaging Het
Olfr1303 T C 2: 111,813,817 K303R probably benign Het
Paxx T C 2: 25,459,662 *206W probably null Het
Pcdhb10 A G 18: 37,413,073 T401A probably benign Het
Ppp1r3a A C 6: 14,719,762 D384E probably benign Het
Rif1 T C 2: 52,077,065 V122A probably damaging Het
Scn4b T C 9: 45,146,682 L24P probably damaging Het
Sec22c T C 9: 121,684,650 probably benign Het
Sh3rf2 A G 18: 42,156,142 D676G probably damaging Het
Slc20a1 A G 2: 129,207,684 T289A probably benign Het
Tekt2 T C 4: 126,324,625 D84G possibly damaging Het
Tgfbr2 T A 9: 116,129,998 N116I probably benign Het
Tmem196 A G 12: 119,946,474 M1V probably null Het
Tnn A G 1: 160,114,553 V1125A probably damaging Het
Vmn2r51 A T 7: 10,100,316 M265K probably benign Het
Zfp319 T C 8: 95,323,734 probably benign Het
Zfp65 A T 13: 67,708,065 V365E possibly damaging Het
Zp3 T A 5: 135,987,610 probably null Het
Other mutations in Pabpn1l
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0928:Pabpn1l UTSW 8 122622619 missense probably benign 0.03
R0940:Pabpn1l UTSW 8 122622444 missense probably benign 0.03
R5716:Pabpn1l UTSW 8 122620421 missense probably damaging 1.00
Posted On2015-04-16